ClinVar Miner

List of variants reported as pathogenic for nervous system cancer by OMIM

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NM_000321.3(RB1):c.-189G>T rs387906520
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs) rs587776784
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer) rs587776785
NM_000321.3(RB1):c.1960+2T>C rs587776780
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter) rs137853295
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.3(RB1):c.2212-1G>A rs587776786
NM_000321.3(RB1):c.2244del (p.Glu748fs) rs587776781
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2490-1398A>G rs587776791
NM_000321.3(RB1):c.2520+1del rs587776779
NM_000321.3(RB1):c.43_65dup (p.Pro23fs) rs587776790
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer) rs1555285429
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_001368894.2(PAX6):c.10+5G>C rs587776572
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) rs121907924
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003072.5(SMARCA4):c.2617-3C>G rs587777463
NM_003072.5(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.4170+1G>A rs587777461
NM_003072.5(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg) rs886039241
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
RB1, 5-BP DEL, EX8

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